PCYT1A

phosphate cytidylyltransferase 1A, choline

Summary

This gene belongs to the cytidylyltransferase family and is involved in the regulation of phosphatidylcholine biosynthesis. Mutations in this gene are associated with spondylometaphyseal dysplasia with cone-rod dystrophy. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2015]

Known Variants240 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs712012	3:195,964,687	C/A	—	—
rs3184886	3:195,965,509	C/T	—	benign
rs1724251301	3:195,965,560	T/G	—	uncertain significance
rs2108760683	3:195,965,564	C/T	—	uncertain significance
rs1577351866	3:195,965,572	T/A	—	likely benign
rs754092372	3:195,965,584	T/C	—	uncertain significance
rs138865781	3:195,965,586	A/G	—	likely benign
rs780201072	3:195,965,601	G/C	—	uncertain significance
rs774160718	3:195,965,603	G/A	—	uncertain significance
rs142070722	3:195,965,607	G/A	—	likely benign
rs747858848	3:195,965,612	G/A	—	uncertain significance
rs1724254101	3:195,965,613	A/T	—	uncertain significance
rs200512211	3:195,965,614	T/C	—	uncertain significance
rs1724254285	3:195,965,616	T/C	—	likely benign
rs1724254383	3:195,965,617	G/A	—	uncertain significance
rs369326424	3:195,965,621	G/A	—	uncertain significance
rs201679700	3:195,965,622	G/A	—	likely benign
rs759958810	3:195,965,624	A/G	—	uncertain significance
rs2474014883	3:195,965,628	A/C	—	likely benign
rs1724255459	3:195,965,633	G/A	—	uncertain significance
rs1724255783	3:195,965,639	T/C	—	uncertain significance
rs2474014936	3:195,965,641	T/C	—	uncertain significance
rs146337013	3:195,965,645	C/T	—	uncertain significance
rs372804569	3:195,965,646	G/C	—	likely benign
rs148500335	3:195,965,653	G/A	—	likely benign
rs142799242	3:195,965,654	G/A	—	likely benign
rs1724257323	3:195,965,657	A/G	—	uncertain significance
rs754397679	3:195,965,659	C/G	—	uncertain significance
rs551199725	3:195,965,660	G/A	—	uncertain significance
rs61737911	3:195,965,667	G/C	—	benign
rs200703149	3:195,965,669	G/A	—	uncertain significance
rs112123768	3:195,965,670	G/C	—	likely benign
rs371440341	3:195,965,673	G/T	—	likely benign
rs1222327977	3:195,965,674	G/A	—	uncertain significance
rs551412906	3:195,965,675	G/A	—	likely benign
rs139656351	3:195,965,679	G/A	—	likely benign
rs199831548	3:195,965,680	C/T	—	likely benign
rs61737437	3:195,965,681	G/A	—	uncertain significance
rs2108760842	3:195,965,682	C/T	—	likely benign
rs2474015119	3:195,965,683	T/C	—	uncertain significance
rs144403921	3:195,965,684	C/T	—	likely benign
rs147831015	3:195,965,685	G/A	—	uncertain significance
rs549056100	3:195,965,686	C/T	—	uncertain significance
rs766301243	3:195,965,687	G/A	—	uncertain significance
rs372957517	3:195,965,690	T/C	—	likely benign
rs376992480	3:195,965,694	G/A	—	likely benign
rs1166285887	3:195,965,699	T/C	—	uncertain significance
rs755592504	3:195,965,703	G/A	—	likely benign
rs748967839	3:195,965,705	G/A	—	uncertain significance
rs200816001	3:195,965,706	G/A	—	likely benign
rs534755558	3:195,965,715	C/T	—	likely benign
rs747402568	3:195,965,716	G/A	—	uncertain significance
rs769196772	3:195,965,718	G/A	—	likely benign
rs1305786964	3:195,965,719	C/G	—	uncertain significance
rs1217573932	3:195,965,720	T/C	—	uncertain significance
rs552993583	3:195,965,724	G/A	—	likely benign
rs571188438	3:195,965,725	G/A	—	likely benign
rs773520771	3:195,965,726	C/T	—	uncertain significance
rs2474015367	3:195,965,731	A/G	—	uncertain significance
rs973487210	3:195,965,737	C/T	—	uncertain significance
rs763245598	3:195,965,739	G/A	—	likely benign
rs116712058	3:195,965,760	A/G	—	benign
rs1170539147	3:195,965,776	C/A	—	likely benign
rs199558523	3:195,965,777	G/A	—	likely benign
rs1724266795	3:195,965,781	G/C	—	likely benign
rs1580820	3:195,966,258	G/A	—	benign
rs373221653	3:195,966,402	G/C	—	likely benign
rs1009132110	3:195,966,405	G/A	—	likely benign
rs201805549	3:195,966,406	G/A	—	benign
rs777970214	3:195,966,410	G/C	—	likely benign
rs1172992050	3:195,966,417	C/T	—	uncertain significance
rs886542008	3:195,966,424	T/C	—	likely benign
rs771264683	3:195,966,430	C/T	—	likely benign
rs774447329	3:195,966,431	G/A	—	uncertain significance
rs1232207713	3:195,966,444	C/G	—	uncertain significance
rs759307632	3:195,966,458	A/G	—	uncertain significance
rs1724289595	3:195,966,465	C/A	—	pathogenic
rs1282668916	3:195,966,467	C/T	—	uncertain significance
rs587777192	3:195,966,468	G/A	stop gained	pathogenic
rs1466714700	3:195,966,484	C/T	—	likely benign
rs377634842	3:195,966,485	T/C	—	uncertain significance
rs145097257	3:195,966,496	G/A	—	likely benign
rs777320008	3:195,966,502	G/A	—	likely benign
rs2108761356	3:195,966,515	A/G	—	uncertain significance
rs755321658	3:195,966,523	A/T	—	likely benign
rs2474016810	3:195,966,536	G/C	—	uncertain significance
rs913593005	3:195,966,539	T/C	—	uncertain significance
rs1339129542	3:195,966,580	C/A	—	uncertain significance
rs2474016905	3:195,966,607	C/G	—	uncertain significance
rs6795511	3:195,967,315	G/C	—	—
rs1045075	3:195,968,643	G/A	—	benign
rs1157897263	3:195,968,802	G/A	—	likely benign
rs1724370979	3:195,968,805	A/C	—	likely benign
rs1577354112	3:195,968,809	T/C	—	likely benign
rs1436567697	3:195,968,811	G/C	—	likely benign
rs762583167	3:195,968,816	C/T	—	uncertain significance
rs144959632	3:195,968,819	G/A	—	uncertain significance
rs201929666	3:195,968,820	T/C	—	conflicting classifications of pathogenicity
rs1246150377	3:195,968,855	G/A	—	likely benign
rs540053239	3:195,968,858	C/G	missense variant	pathogenic

Showing 100 of 240 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.